Linked Data
dbSNP Id:
rs777978915
ExAC:
9:37429802 T / C
gnomAD v2:
9-37429802-T-C
gnomAD v4:
9-37429805-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37429805T>C , CM000671.2:g.37429805T>C | GRCh38 |
| NC_000009.11:g.37429802T>C , CM000671.1:g.37429802T>C | GRCh37 |
| NC_000009.10:g.37419802T>C | NCBI36 |
| NG_008135.1:g.12096T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318158.11:c.567T>C MANE Select | ENSP00000313432.6:p.Pro189= | |
| ENST00000318158.10:c.567T>C | ENSP00000313432.6:p.Pro189= | |
| ENST00000377824.8:n.604T>C | ||
| ENST00000460882.5:n.594T>C | ||
| ENST00000480596.5:n.1268T>C | ||
| ENST00000482603.1:n.20T>C | ||
| ENST00000491488.5:n.272T>C | ||
| ENST00000494290.1:c.138T>C | ENSP00000432021.1:p.Pro46= | |
| ENST00000497693.1:n.2100T>C | ||
| ENST00000607784.1:c.567T>C | ENSP00000475569.1:p.Pro189= | |
| NM_012203.1:c.567T>C | NP_036335.1:p.Pro189= | |
| XM_005251631.1:c.246T>C | XP_005251688.1:p.Pro82= | |
| XM_011518073.1:c.165T>C | XP_011516375.1:p.Pro55= | |
| XR_929374.1:n.1012T>C | ||
| XM_017015320.2:c.567T>C | XP_016870809.1:p.Pro189= | |
| XM_017015321.2:c.567T>C | XP_016870810.1:p.Pro189= | |
| XM_017015323.2:c.165T>C | XP_016870812.1:p.Pro55= | |
| XM_024447716.1:c.840T>C | XP_024303484.1:p.Pro280= | |
| XM_024447717.1:c.840T>C | XP_024303485.1:p.Pro280= | |
| XR_002956828.1:n.855T>C | ||
| XR_002956829.1:n.855T>C | ||
| XR_002956830.1:n.626T>C | ||
| XR_002956831.1:n.301T>C | ||
| XR_002956832.1:n.986T>C | ||
| NM_012203.2:c.567T>C MANE Select | NP_036335.1:p.Pro189= |